Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
Pediatrics. 2011 Feb;127(2):e505-8. doi: 10.1542/peds.2010-2391. Epub 2011 Jan 3.
Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.
铜是一种微量元素，对于细胞呼吸、神经递质合成、色素形成、抗氧化防御、肽酰胺化以及结缔组织形成都必不可少。铜代谢异常与影响运动的神经障碍有关，如威尔逊病和 Menkes 病；然而，非威尔逊病、非 Menkes 型铜代谢紊乱的诊断更加难以捉摸，尤其是在具有非典型特征的情况下。我们在此介绍了一例铜代谢紊乱的青少年病例，其表现为急性严重的单侧舌运动障碍和明显的抽搐，伴有上肢舞蹈病，但脑和脊髓 MRI 结果正常，也没有任何构音障碍或吞咽困难的迹象。他的血清铜和铜蓝蛋白水平较低，但在青霉胺试验后尿铜水平升高。我们的结论是，即使在表现非常不典型的情况下，也应将铜代谢紊乱纳入运动障碍的鉴别诊断中，因为许多疾病是可以治疗的。此外，据我们所知，这是首次在人类中提出铜代谢紊乱与抽动症之间存在关联；需要进一步的研究来更好地确定这种关联，并了解其潜在的病理生理学。
